肢体乏力10余年——远端型遗传性运动神经病  

Limb weakness for 10 years-Distal inheritary motor neuropathy?

作　　者：谢春格 陈洁玲 甘蓉[1] 张玉虎[1] XIE Chunge;CHEN Jieling;GAN Rong;ZHANG Yuhu(Department of Neurology,Guangdong Neuroscience Institute,Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences),Southern Medical University,106 Zhongshan Er Road,Guangzhou 510080,China)

机构地区：[1]南方医科大学附属广东省人民医院(广东省医学科学院)神经科神经科学研究所,广州510030

出　　处：《中国神经精神疾病杂志》2023年第5期318-320,I0001,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：广东省医学科学技术研究基金项目(编号:A2022537);广东省中医药局科研项目(编号:20222027)。

摘　　要：远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是罕见的遗传性周围神经病,由于其发病率低,临床表现异质性强,临床易误诊或漏诊。本文报告1例可疑远端型遗传性运动神经病。患者发病十年,以隐匿性肢体无力起病,伴有肌肉萎缩,无感觉异常,神经科查体及神经电生理检查均提示为远端对称性运动纤维轴索损害,详细分析患者临床资料及神经电生理检查特点,符合远端型遗传性运动神经病的特点,基因筛查提示患者有BSCL2基因突变。经营养神经等对症治疗,随访将近1年,患者临床症状及电生理检查无明显进展。该病例提示临床工作中应注意遗传性周围神经病的可能,善于分析临床及电生理检查资料,必要时采用基因诊断,做到早发现、早确诊。The distal hereditary motor neuropathy(dHMN)is an inherited neuropathy.It is often misdiagnosed or missed clinically because of its low incidence rate and heterogenous clinical manifestations.Here we report a case of suspected distal hereditary motor neuropathy.The patient started with limb weakness,accompanied by muscle atrophy but without sensory abnormalities.Neurological physical examination and electrophysiological examination showed distal symmetrical motor fiber axonal damage.Detailed analysis revealed that the characteristics of the patient's clinical data and electrophysiological examination were consistent with distal hereditary motor neuropathies.Gene screening showed BSCL2 gene mutation.After symptomatic treatment for almost one year,the patient showed no significant progress.This case suggests that we should pay attention to the hereditary peripheral neuropathies in clinical practice.Physicians should be good at analyzing clinical and electrophysiological examination data and using genetic tool when necessary to achieve early detection and early diagnosis.

关 键 词：远端型遗传性运动神经病 BSCL2 肌电图 

分 类 号：R745[医药卫生—神经病学与精神病学]